Canonical Allele Identifier: CA713526803

Gene: HDC

Linked Data

• dbSNP Id: rs1240960187
• MyVariant Identifiers: chr15:g.50534358A>G (hg19) ; chr15:g.50242161A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50242161A>G , CM000677.2:g.50242161A>G	GRCh38
NC_000015.9:g.50534358A>G , CM000677.1:g.50534358A>G	GRCh37
NC_000015.8:g.48321650A>G	NCBI36
NG_027487.1:g.28805T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000267845.8:c.*99T>C MANE Select	ENSP00000267845.3:n.*99T>C
ENST00000267845.7:c.*99T>C	ENSP00000267845.3:n.*99T>C
ENST00000543581.5:c.*99T>C	ENSP00000440252.1:n.*99T>C
ENST00000559816.1:n.1832T>C
NM_001306146.1:c.*99T>C	NP_001293075.1:n.*99T>C
NM_002112.3:c.*99T>C	NP_002103.2:n.*99T>C
XM_011521479.1:c.*99T>C	XP_011519781.1:n.*99T>C
XM_011521480.1:c.*99T>C	XP_011519782.1:n.*99T>C
XM_017022094.1:c.*99T>C	XP_016877583.1:n.*99T>C
XM_017022095.1:c.*99T>C	XP_016877584.1:n.*99T>C
XM_017022096.1:c.*99T>C	XP_016877585.1:n.*99T>C
XM_017022097.1:c.*99T>C	XP_016877586.1:n.*99T>C
XM_017022098.1:c.*99T>C	XP_016877587.1:n.*99T>C
NM_002112.4:c.*99T>C MANE Select	NP_002103.2:n.*99T>C
NM_001306146.2:c.*99T>C	NP_001293075.1:n.*99T>C